PedAM

Pediatric Disease Annotations & Medicines


	primary ciliary dyskinesia

Disease ID	22
Disease	primary ciliary dyskinesia
Definition	Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
Synonym	cilia immotile syndrome cilia syndrome, immotile cilia syndromes, immotile ciliary dyskinesia ciliary dyskinesias ciliary motility defect ciliary motility dis ciliary motility disorder ciliary motility disorders ciliary motility disorders [disease/finding] disorder, ciliary motility disorders, ciliary motility dyskinesia, ciliary dyskinesias, ciliary dysmotile cilia syndrome dysmotility syndrome ics - immotile cilia syndrome immotile cilia syndrome immotile cilia syndrome (disorder) immotile cilia syndromes pcd - primary ciliary dyskinesia primary ciliary dyskinesia (disorder) primary ciliary dyskinesia -retired- syndrome, immotile cilia syndromes, immotile cilia
Orphanet	ORPHANET:244
OMIM	OMIM:244400
DOID	DOID:9562
UMLS	C0008780
MeSH	D002925
SNOMED-CT	SNOMEDCT_US_2016_09_01:86204009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:21) C0024115 \| lung disease \| 2 C0006267 \| bronchiectasis \| 2 C0037315 \| sleep disordered breathing \| 1 C0032285 \| pneumoniae \| 1 C0032269 \| streptococcus pneumoniae infection \| 1 C1619734 \| pulmonary arterial hypertension \| 1 C0020255 \| hydrocephalus \| 1 C0020538 \| hypertension \| 1 C0021400 \| influenzae \| 1 C0018799 \| heart disease \| 1 C0006271 \| bronchiolitis \| 1 C0022679 \| cystic kidneys \| 1 C0042870 \| vitamin d deficiency \| 1 C0024117 \| chronic airway disease \| 1 C0022521 \| kartagener syndrome \| 1 C0152021 \| congenital heart disease \| 1 C0024115 \| pulmonary disease \| 1 C0021359 \| infertility \| 1 C0006285 \| bronchopneumonia \| 1 C0042870 \| vitamin d defic \| 1 C0022679 \| cystic kidney \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:40) IFT122 \| 55764 \| CTD_human CCDC39 \| 339829 \| CLINVAR;ORPHANET;GHR;UniProtKB-KW RPGR \| 6103 \| ORPHANET;GHR ZMYND10 \| 51364 \| ORPHANET;GHR;UniProtKB-KW HYDIN \| 54768 \| ORPHANET;GHR;UniProtKB-KW DYX1C1 \| 161582 \| ORPHANET;GHR;UniProtKB-KW CCDC40 \| 55036 \| CLINVAR;ORPHANET;GHR;UniProtKB-KW SPAG1 \| 6674 \| ORPHANET;GHR;UniProtKB-KW RSPH4A \| 345895 \| ORPHANET;GHR;UniProtKB-KW GAS8 \| 2622 \| ORPHANET;UniProtKB-KW CCDC114 \| 93233 \| ORPHANET;GHR;UniProtKB-KW OFD1 \| 8481 \| ORPHANET;GHR DNAJB13 \| 374407 \| ORPHANET;UniProtKB-KW DNAH11 \| 8701 \| ORPHANET;GHR;UniProtKB-KW CCDC65 \| 85478 \| ORPHANET;GHR DNAH5 \| 1767 \| CLINVAR;ORPHANET;GHR;UniProtKB-KW DNAL1 \| 83544 \| ORPHANET;GHR DNAI2 \| 64446 \| ORPHANET;GHR;UniProtKB-KW DNAI1 \| 27019 \| ORPHANET;GHR;UniProtKB-KW ARMC4 \| 55130 \| ORPHANET;GHR;UniProtKB-KW CCDC103 \| 388389 \| ORPHANET;GHR;UniProtKB-KW DRC1 \| 92749 \| ORPHANET RPGRIP1L \| 23322 \| CTD_human LRRC6 \| 23639 \| ORPHANET;GHR;UniProtKB-KW CENPF \| 1063 \| UniProtKB-KW INPP5E \| 56623 \| CTD_human DNAAF1 \| 123872 \| ORPHANET;GHR;UniProtKB-KW DNAAF2 \| 55172 \| ORPHANET;GHR;UniProtKB-KW DNAAF3 \| 352909 \| ORPHANET;GHR;UniProtKB-KW CCDC151 \| 115948 \| ORPHANET;UniProtKB-KW PIH1D3 \| 139212 \| UniProtKB-KW TTC25 \| 83538 \| ORPHANET RSPH9 \| 221421 \| ORPHANET;GHR;UniProtKB-KW RSPH1 \| 89765 \| ORPHANET;GHR;UniProtKB-KW RSPH3 \| 83861 \| ORPHANET;UniProtKB-KW C21orf59 \| 56683 \| UniProtKB-KW;GHR NME8 \| 51314 \| ORPHANET;GHR;UniProtKB-KW DNAH8 \| 1769 \| GHR CCNO \| 10309 \| ORPHANET;UniProtKB-KW DNAAF5 \| 54919 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4295 \| MLN \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:133) 1080 \| CFTR \| DISEASES 79657 \| RPAP3 \| DISEASES 10942 \| PRSS21 \| DISEASES 51314 \| NME8 \| DISEASES 27285 \| TEKT2 \| DISEASES 25776 \| CBY1 \| DISEASES 81492 \| RSPH6A \| DISEASES 10566 \| AKAP3 \| DISEASES 345895 \| RSPH4A \| DISEASES 4015 \| LOX \| DISEASES 51364 \| ZMYND10 \| DISEASES 150465 \| TTL \| DISEASES 1768 \| DNAH6 \| DISEASES 27019 \| DNAI1 \| DISEASES 1088 \| CEACAM8 \| DISEASES 8195 \| MKKS \| DISEASES 1773 \| DNASE1 \| DISEASES 23639 \| LRRC6 \| DISEASES 6674 \| SPAG1 \| DISEASES 83861 \| RSPH3 \| DISEASES 10343 \| PKDREJ \| DISEASES 3337 \| DNAJB1 \| DISEASES 5989 \| RFX1 \| DISEASES 3074 \| HEXB \| DISEASES 10728 \| PTGES3 \| DISEASES 5310 \| PKD1 \| DISEASES 1770 \| DNAH9 \| DISEASES 3783 \| KCNN4 \| DISEASES 22858 \| ICK \| DISEASES 50937 \| CDON \| DISEASES 1991 \| ELANE \| DISEASES 56912 \| IFT46 \| DISEASES 1767 \| DNAH5 \| DISEASES 8382 \| NME5 \| DISEASES 25809 \| TTLL1 \| DISEASES 122481 \| AK7 \| DISEASES 585 \| BBS4 \| DISEASES 2622 \| GAS8 \| DISEASES 3782 \| KCNN3 \| DISEASES 10637 \| LEFTY1 \| DISEASES 5921 \| RASA1 \| DISEASES 255626 \| HIST1H2BA \| DISEASES 10309 \| CCNO \| DISEASES 4956 \| ODF1 \| DISEASES 4838 \| NODAL \| DISEASES 163786 \| SASS6 \| DISEASES 6529 \| SLC6A1 \| DISEASES 4091 \| SMAD6 \| DISEASES 168507 \| PKD1L1 \| DISEASES 56683 \| C21orf59 \| DISEASES 89765 \| RSPH1 \| DISEASES 27148 \| STK36 \| DISEASES 213 \| ALB \| DISEASES 7802 \| DNALI1 \| DISEASES 221613 \| HIST1H2AA \| DISEASES 55582 \| KIF27 \| DISEASES 55172 \| DNAAF2 \| DISEASES 27343 \| POLL \| DISEASES 956 \| ENTPD3 \| DISEASES 6795 \| AURKC \| DISEASES 5308 \| PITX2 \| DISEASES 84203 \| TXNDC2 \| DISEASES 55130 \| ARMC4 \| DISEASES 64446 \| DNAI2 \| DISEASES 56171 \| DNAH7 \| DISEASES 5626 \| PROP1 \| DISEASES 85478 \| CCDC65 \| DISEASES 57539 \| WDR35 \| DISEASES 54768 \| HYDIN \| DISEASES 374768 \| SPEM1 \| DISEASES 283417 \| DPY19L2 \| DISEASES 582 \| BBS1 \| DISEASES 93233 \| CCDC114 \| DISEASES 161582 \| DYX1C1 \| DISEASES 2302 \| FOXJ1 \| DISEASES 2318 \| FLNC \| DISEASES 8701 \| DNAH11 \| DISEASES 79582 \| SPAG16 \| DISEASES 1769 \| DNAH8 \| DISEASES 148738 \| HFE2 \| DISEASES 139212 \| PIH1D3 \| DISEASES 200162 \| SPAG17 \| DISEASES 135138 \| PACRG \| DISEASES 83893 \| SPATA16 \| DISEASES 374407 \| DNAJB13 \| DISEASES 6338 \| SCNN1B \| DISEASES 204 \| AK2 \| DISEASES 954 \| ENTPD2 \| DISEASES 5265 \| SERPINA1 \| DISEASES 10438 \| C1D \| DISEASES 79925 \| SPEF2 \| DISEASES 115948 \| CCDC151 \| DISEASES 8852 \| AKAP4 \| DISEASES 22920 \| KIFAP3 \| DISEASES 6991 \| TCTE3 \| DISEASES 7044 \| LEFTY2 \| DISEASES 1063 \| CENPF \| DISEASES 29922 \| NME7 \| DISEASES 25911 \| DPCD \| DISEASES 51361 \| HOOK1 \| DISEASES 377841 \| ENTPD8 \| DISEASES 221421 \| RSPH9 \| DISEASES 203 \| AK1 \| DISEASES 84890 \| ADO \| DISEASES 164395 \| TTLL9 \| DISEASES 9576 \| SPAG6 \| DISEASES 57704 \| GBA2 \| DISEASES 6103 \| RPGR \| DISEASES 123872 \| DNAAF1 \| DISEASES 11127 \| KIF3A \| DISEASES 116840 \| CNTROB \| DISEASES 5991 \| RFX3 \| DISEASES 352909 \| DNAAF3 \| DISEASES 64400 \| AKTIP \| DISEASES 1781 \| DYNC1I2 \| DISEASES 55036 \| CCDC40 \| DISEASES 79659 \| DYNC2H1 \| DISEASES 57096 \| RPGRIP1 \| DISEASES 57703 \| CWC22 \| DISEASES 388389 \| CCDC103 \| DISEASES 3702 \| ITK \| DISEASES 25981 \| DNAH1 \| DISEASES 339829 \| CCDC39 \| DISEASES 3831 \| KLC1 \| DISEASES 5270 \| SERPINE2 \| DISEASES 51686 \| OAZ3 \| DISEASES 51366 \| UBR5 \| DISEASES 4586 \| MUC5AC \| DISEASES 727897 \| MUC5B \| DISEASES 83695 \| RHNO1 \| DISEASES 5726 \| TAS2R38 \| DISEASES 83544 \| DNAL1 \| DISEASES 10856 \| RUVBL2 \| DISEASES
Locus	Symbol \| Locus(Total Locus:34) CCDC39 \| 3q26.33 DNAH5 \| 5p15.2 RSPH1 \| 21q22.3 ARMC4 \| 10p12.1 CCDC40 \| 17q25.3 DNAAF2 \| 14q21.3 TTC25 \| 17q21.2 CCNO \| 5q11.2 DNAAF1 \| 16q24.1 ZMYND10 \| 3p21.31 RSPH3 \| 6q25.3 CCDC151 \| 19p13.2 RSPH4A \| 6q22.1 DNAL1 \| 14q24.3 CCDC114 \| 19q13.33 NME8 \| 7p14.1 RPGR \| Xp11.4 DNAI1 \| 9p13.3 DRC1 \| 2p23.3 DNAH11 \| 7p15.3 OFD1 \| Xp22.2 CCDC65 \| 12q13.12 RSPH9 \| 6p21.1 C21ORF59 \| 21q22.11 DNAJB13 \| 11q13.4 DNAAF5 \| 7p22.3 DNAAF3 \| 19q13.42 GAS8 \| 16q24.3 DYX1C1 \| 15q21.3 CCDC103 \| 17q21.31 LRRC6 \| 8q24.22 SPAG1 \| 8q22.2 DNAI2 \| 17q25.1 HYDIN \| 16q22.2

Disease ID	22
Disease	primary ciliary dyskinesia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0002205 \| Recurrent respiratory infections
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0002110 \| Bronchiectasis \| 2 HP:0002410 \| Aqueductal stenosis \| 1 HP:0002719 \| infections, recurrent \| 1 HP:0000113 \| Polycystic kidney dysplasia \| 1 HP:0001751 \| Vestibular dysfunction \| 1 HP:0012206 \| Abnormal sperm motility \| 1 HP:0000822 \| Hypertension \| 1 HP:0006784 \| Underdevelopment of paranasal sinus \| 1 HP:0000789 \| Infertility \| 1 HP:0011950 \| Bronchiolitis \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0001696 \| Situs inversus totalis \| 1 HP:0011947 \| Respiratory infection \| 1 HP:0006532 \| Pneumonia, recurrent episodes \| 1

Disease ID	22
Disease	primary ciliary dyskinesia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:12) C2048468 \| male infertility C2029884 \| hearing loss C1961131 \| cough C0455683 \| congenital heart disease C0262405 \| brain dysfunction C0037090 \| pulmonary symptoms C0035243 \| respiratory tract infection C0032987 \| ectopic pregnancy C0029883 \| otitis media with effusion C0024115 \| lung disease C0009447 \| common variable immunodeficiency C0006267 \| bronchiectasis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0006267 \| bronchiectasis \| 2 C0024115 \| lung disease \| 2 C0152021 \| congenital heart disease \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs397515392	NA	339829	CCDC39	umls:C0008780	CLINVAR	NA	0.120542884	NA	CCDC39	3	180661860	C	G
rs397515393	NA	55036	CCDC40	umls:C0008780	CLINVAR	NA	0.120542884	NA	CCDC40	17	80039966	C	-
rs754867753	NA	55036	CCDC40	umls:C0008780	CLINVAR	NA	0.120542884	NA	CCDC40	17	80050085	C	T
rs756235547	NA	339829	CCDC39	umls:C0008780	CLINVAR	NA	0.120542884	NA	CCDC39	3	180659582	T	C
rs769054713	NA	1767	DNAH5	umls:C0008780	CLINVAR	NA	0.125438769	NA	DNAH5	5	13777309	G	A
rs780175755	NA	339829	CCDC39	umls:C0008780	CLINVAR	NA	0.120542884	NA	CCDC39	3	180659759	AG	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0011947	Respiratory tract infection	MP:0002418	increased susceptibility to viral infection;HP:0003251	Male infertility

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012735	Cough	MP:0011250	abdominal situs ambiguus;HP:0011947	Respiratory tract infection

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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